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  Domain Name: GH20_SpHex_like
A subgroup of the Glycosyl hydrolase family 20 (GH20) catalytic domain found in proteins similar to the N-acetylhexosaminidase from Streptomyces plicatus (SpHex). SpHex catalyzes the hydrolysis of N-acetyl-beta-hexosaminides. An Asp residue within the active site plays a critical role in substrate-assisted catalysis by orienting the 2-acetamido group and stabilizing the transition state. The GH20 hexosaminidases are thought to act via a catalytic mechanism in which the catalytic nucleophile is not provided by solvent or the enzyme, but by the substrate itself. Proteins belonging to this subgroup lack the C-terminal PKD (polycystic kidney disease I)-like domain found in the chitobiases.
No pairwise interactions are available for this conserved domain.

Total Mutations Found: 40
Total Disease Mutations Found: 36
This domain occurred 2 times on human genes (3 proteins).



  BETA-HEXOSAMINIDASE A, PSEUDODEFICIENCY OF
  GM2-GANGLIOSIDOSIS, ADULT
  GM2-GANGLIOSIDOSIS, ADULT-ONSET
  GM2-GANGLIOSIDOSIS, B1 VARIANT
  GM2-GANGLIOSIDOSIS, JUVENILE
  GM2-GANGLIOSIDOSIS, LATE ONSET
  GM2-GANGLIOSIDOSIS, SUBACUTE
  HEXA, CZECHOSLOVAKIAN ALLELE
  HEXA, DN ALLELE
  SANDHOFF DISEASE, ADULT TYPE
  SANDHOFF DISEASE, CHRONIC
  SANDHOFF DISEASE, INFANTILE
  SANDHOFF DISEASE, JUVENILE TYPE
  TAY-SACHS DISEASE
  TAY-SACHS DISEASE, B1 VARIANT
  TAY-SACHS DISEASE, JUVENILE


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Range on the Protein:  

   Protein ID            Protein Position

Domain Position:  


Feature Name:Total Found:
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Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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